Mutagenetix > Incidental Mutation

Incidental Mutation 'R2888:Aimp2'

259990

Institutional Source

Beutler Lab

Gene Symbol

Aimp2

Ensembl Gene

ENSMUSG00000029610

Gene Name

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

Synonyms

Jtv1, Aimp2(p38)

MMRRC Submission

040476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143839522-143846657 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 143846553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031613] [ENSMUST00000100483] [ENSMUST00000110709] [ENSMUST00000148011]

AlphaFold

Q8R010

Predicted Effect

probably benign
Transcript: ENSMUST00000031613

SMART Domains

Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610

Domain	Start	End	E-Value	Type
Pfam:AIMP2_LysRS_bd	1	44	8.3e-26	PFAM
low complexity region	133	142	N/A	INTRINSIC
Pfam:GST_C_3	231	308	2.5e-10	PFAM
Pfam:GST_C	242	310	5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100483

SMART Domains

Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610

Domain	Start	End	E-Value	Type
low complexity region	93	102	N/A	INTRINSIC
Pfam:GST_C_3	185	268	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110707

Predicted Effect

probably benign
Transcript: ENSMUST00000110709

SMART Domains

Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109

Domain	Start	End	E-Value	Type
HATPase_c	30	165	3.77e-1	SMART
MutL_C	277	421	1.59e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147910

Predicted Effect

probably benign
Transcript: ENSMUST00000148011

SMART Domains

Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109

Domain	Start	End	E-Value	Type
HATPase_c	30	165	3.77e-1	SMART
DNA_mis_repair	227	364	4.76e-41	SMART
MutL_C	675	819	1.59e-36	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele are born with no apparent phenotype but die within 2 days of birth of unknown causes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	A	T	X: 77,414,288 (GRCm39)	I338F	probably damaging	Het
Acd	A	G	8: 106,425,470 (GRCm39)	S288P	probably benign	Het
Atp8b2	T	C	3: 89,865,600 (GRCm39)	D100G	probably damaging	Het
Cacna1i	A	T	15: 80,258,968 (GRCm39)	I1226F	probably damaging	Het
Dsp	C	A	13: 38,376,224 (GRCm39)	N1336K	possibly damaging	Het
Extl2	T	C	3: 115,820,906 (GRCm39)	F251S	probably damaging	Het
Gusb	T	C	5: 130,029,343 (GRCm39)	H146R	probably damaging	Het
Itpr2	C	T	6: 146,072,791 (GRCm39)	G2380S	probably damaging	Het
Kansl1l	T	C	1: 66,763,764 (GRCm39)	K762E	probably benign	Het
Krtap4-9	C	A	11: 99,676,245 (GRCm39)	C55*	probably null	Het
Lamp1	T	A	8: 13,223,891 (GRCm39)	L341H	probably damaging	Het
Llcfc1	A	T	6: 41,661,537 (GRCm39)	K29M	probably damaging	Het
Malrd1	A	T	2: 16,079,568 (GRCm39)	I1762F	unknown	Het
Muc5b	G	A	7: 141,415,291 (GRCm39)	V2746M	probably damaging	Het
Mug1	T	A	6: 121,858,802 (GRCm39)	D1173E	probably benign	Het
Myo5b	G	C	18: 74,895,689 (GRCm39)	E1782Q	probably damaging	Het
Or2t46	T	C	11: 58,471,988 (GRCm39)	F106S	possibly damaging	Het
Pcdha5	A	G	18: 37,094,940 (GRCm39)	D483G	probably damaging	Het
Phex	T	C	X: 156,093,954 (GRCm39)	I439V	probably benign	Het
Pkd1l1	T	A	11: 8,897,251 (GRCm39)	S103C	probably damaging	Het
Plekha4	C	T	7: 45,187,668 (GRCm39)	R176C	probably damaging	Het
Ppp1r3a	T	G	6: 14,718,248 (GRCm39)	S889R	possibly damaging	Het
Pramel23	G	T	4: 143,423,460 (GRCm39)	T443K	probably benign	Het
Prol1	C	A	5: 88,476,168 (GRCm39)	A186E	unknown	Het
Rbm39	C	T	2: 156,009,503 (GRCm39)	R123H	probably benign	Het
Rtn4	T	C	11: 29,643,687 (GRCm39)	S167P	probably damaging	Het
Slc35a5	A	G	16: 44,971,923 (GRCm39)	C114R	probably damaging	Het
Smoc2	T	C	17: 14,617,887 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,798,664 (GRCm39)	T1998A	possibly damaging	Het
Tbc1d5	T	A	17: 51,242,577 (GRCm39)	E173D	probably damaging	Het
Tsc2	A	G	17: 24,850,969 (GRCm39)		probably null	Het
Umps	A	T	16: 33,784,240 (GRCm39)	V71E	probably damaging	Het
Vmn2r13	T	C	5: 109,339,840 (GRCm39)	D45G	possibly damaging	Het
Wdfy4	C	A	14: 32,831,476 (GRCm39)	E917*	probably null	Het
Zfhx2	T	C	14: 55,302,260 (GRCm39)	K1908R	possibly damaging	Het
Zfp511	A	C	7: 139,619,295 (GRCm39)	D204A	probably benign	Het

Other mutations in Aimp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Aimp2	APN	5	143,843,524 (GRCm39)	missense	probably damaging	1.00
R0630:Aimp2	UTSW	5	143,843,419 (GRCm39)	missense	probably benign	0.00
R1185:Aimp2	UTSW	5	143,841,509 (GRCm39)	missense	possibly damaging	0.82
R1185:Aimp2	UTSW	5	143,841,509 (GRCm39)	missense	possibly damaging	0.82
R1185:Aimp2	UTSW	5	143,841,509 (GRCm39)	missense	possibly damaging	0.82
R1992:Aimp2	UTSW	5	143,843,548 (GRCm39)	missense	probably damaging	1.00
R3030:Aimp2	UTSW	5	143,843,509 (GRCm39)	missense	probably damaging	1.00
R3782:Aimp2	UTSW	5	143,843,517 (GRCm39)	missense	possibly damaging	0.54
R5510:Aimp2	UTSW	5	143,843,347 (GRCm39)	unclassified	probably benign
R5689:Aimp2	UTSW	5	143,843,389 (GRCm39)	missense	possibly damaging	0.51
R8019:Aimp2	UTSW	5	143,846,412 (GRCm39)	missense	probably benign	0.01
R8777:Aimp2	UTSW	5	143,839,825 (GRCm39)	missense	probably damaging	0.99
R8777-TAIL:Aimp2	UTSW	5	143,839,825 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTAGGAGGATTTTGTCGGACC -3'
(R):5'- CGGTGATTGGCCAACTCAAAG -3'

Sequencing Primer
(F):5'- ATTTTGTCGGACCCGGCC -3'
(R):5'- TTGGCCAACTCAAAGGTCAAGTTG -3'

Posted On

2015-01-23